Pierre Robin Syndrome

Oral Pathology

It is a set of abnormalities affecting the head and neck. It is described as a “sequence” because one of its features, underdevelopment of the lower jaw (mandible), sets off a sequence of events before birth that cause the other signs and symptoms.

Etiology:

  • Associated with restriction of mandibular development in utero
  • Associated with mutations in chromosomes 2, 11, and 17
  • An affliction in the family increases the chance of another

Pathogenesis:

Mechanical theory – mandibular hypoplasia, the initial event occurs between the 7th and 11th week of gestation. This keeps the tongue high in the oral cavity, causing a cleft in the palate by preventing the closure of the palatal shelves

Clinical:

  • Triad:
  • U-shaped cleft palate
  • Micrognathia of mandible
  • Glossoptosis (tongue that is placed further back than normal)
  • Airway obstruction due to the tongue position leads to difficulty in breathing
  • Malnutrition due to feeding difficulties in early life, and therefore are unable to grow and gain weight at the expected rate
  • Hydrocephaly/microcephaly occasionally

Management:

  • Airway management and optimizing breathing and feeding to improve growth nutrition
  • Monitor sleep apnea. Patient should be placed in side lying or prone position. In severe refractory cases, can do oral airway placement, laryngeal mask or intubation (intubation performed by specialized physician)
  • For feeding difficulties, can use nasogastric or orogasric feeding tube temporarily
  • Palatal plates such as the pre-epiglottic baton plate, which have a velar extension, pulls the base of the tongue forward. This is helpful in the relief of airway obstruction, and it also facilitates the swallowing mechanism during feeding.
  • In some children with pierre robin sequence, growth of the mandible catches up, and as adults these individuals have normal-sized chins.
  • Residual deficit maybe corrected by surgery/ distraction osteogenesis

Prognosis:

  • Mostly good, with proper management, PRS babies can grow to healthy normal adult life

Differential diagnosis:

Pierre Robin syndrome